title: Pitpnm1 is expressed in hair cells during development but is not required for hearing.
abstract: Deafness is a genetically complex disorder with many contributing genes still unknown. Here we describe the expression of Pitpnm1 in the inner ear. It is expressed in the inner hair cells of the organ of Corti from late embryonic stages until adulthood, and transiently in the outer hair cells during early postnatal stages. Despite this specific expression, Pitpnm1 null mice showed no hearing defects, possibly due to redundancy with the paralogous genes Pitpnm2 and Pitpnm3.
authors.affiliation: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, Cambs CB10 1SA, United Kingdom. Electronic address: francesca.carlisle@gmail.com.
authors.forename: F A
authors.initials: FA
authors.lastname: Carlisle
authors.affiliation: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, Cambs CB10 1SA, United Kingdom. Electronic address: sp9@sanger.ac.uk.
authors.forename: S
authors.initials: S
authors.lastname: Pearson
authors.affiliation: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, Cambs CB10 1SA, United Kingdom. Electronic address: karen.steel@kcl.ac.uk.
authors.forename: K P
authors.initials: KP
authors.lastname: Steel
authors.affiliation: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, Cambs CB10 1SA, United Kingdom. Electronic address: morag.lewis@kcl.ac.uk.
authors.forename: M A
authors.initials: MA
authors.lastname: Lewis
mesh_terms: D000375:Aging / Q000502:physiology*; D000818:Animals; D007758:Ear, Inner / Q000166:cytology*; D005136:Eye Proteins / Q000235:genetics / Q000378:metabolism*; D018507:Gene Expression Regulation, Developmental; D006199:Hair Cells, Auditory, Inner / Q000378:metabolism*; D006309:Hearing / Q000235:genetics / Q000502:physiology*; D006320:Hearing Tests; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D049294:Phospholipid Transfer Proteins / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*
chemical_list: D005136:Eye Proteins; D049294:Phospholipid Transfer Proteins; C471665:Pitpnm1 protein, mouse
keywords: Mir96; Pitpnm1; deafness; hair cell; inner ear; mouse mutant